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Page 1
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
Wesdorp M, de Koning Gans PAM, Schraders M, Oostrik J, Huynen MA, Venselaar H, Beynon AJ, van Gaalen J, Piai V, Voermans N, van Rossum MM, Hartel BP, Lelieveld SH, Wiel L, Verbist B, Rotteveel LJ, van Dooren MF, Lichtner P, Kunst HPM, Feenstra I, Admiraal RJC; DOOFNL Consortium; Yntema HG, Hoefsloot LH, Pennings RJE, Kremer H. Wesdorp M, et al. Among authors: van gaalen j, van dooren mf, van rossum mm. Hum Genet. 2018 May;137(5):389-400. doi: 10.1007/s00439-018-1880-5. Epub 2018 May 12. Hum Genet. 2018. PMID: 29754270 Free PMC article.
SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias.
Uebachs M, Wegner P, Schaaf S, Kugai S, Jacobi H, Kuo SH, Ashizawa T, Fluck J; EUROSCA study group; ESMI study group; RISCA study group; CRC-SCA study group; SCA Registry study group; Klockgether T, Faber J. Uebachs M, et al. Cerebellum. 2024 Jun;23(3):887-895. doi: 10.1007/s12311-023-01546-0. Epub 2023 Mar 31. Cerebellum. 2024. PMID: 37002505 Free PMC article.
Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.
Raposo M, Hübener-Schmid J, Ferreira AF, Vieira Melo AR, Vasconcelos J, Pires P, Kay T, Garcia-Moreno H, Giunti P, Santana MM, Pereira de Almeida L, Infante J, van de Warrenburg BP, de Vries JJ, Faber J, Klockgether T, Casadei N, Admard J, Schöls L; European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study group; Riess O, Lima M. Raposo M, et al. Brain. 2023 Oct 3;146(10):4132-4143. doi: 10.1093/brain/awad128. Brain. 2023. PMID: 37071051
Cervical dystonia after ear surgery.
van Gaalen J, Pennings RJ, Beynon AJ, Münchau A, Bloem BR, van de Warrenburg BP. van Gaalen J, et al. Among authors: van de warrenburg bp. Parkinsonism Relat Disord. 2012 Jun;18(5):669-71. doi: 10.1016/j.parkreldis.2011.10.004. Epub 2011 Oct 22. Parkinsonism Relat Disord. 2012. PMID: 22018913
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Pennings M, Schouten MI, van Gaalen J, Meijer RPP, de Bot ST, Kriek M, Saris CGJ, van den Berg LH, van Es MA, Zuidgeest DMH, Elting MW, van de Kamp JM, van Spaendonck-Zwarts KY, Die-Smulders C, Brilstra EH, Verschuuren CC, de Vries BBA, Bruijn J, Sofou K, Duijkers FA, Jaeger B, Schieving JH, van de Warrenburg BP, Kamsteeg EJ. Pennings M, et al. Among authors: van es ma, van spaendonck zwarts ky, van gaalen j, van den berg lh, van de warrenburg bp, van de kamp jm. Eur J Hum Genet. 2020 Jan;28(1):40-49. doi: 10.1038/s41431-019-0497-z. Epub 2019 Sep 5. Eur J Hum Genet. 2020. PMID: 31488895 Free PMC article.
Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
van Os NJH, Chessa L, Weemaes CMR, van Deuren M, Fiévet A, van Gaalen J, Mahlaoui N, Roeleveld N, Schrader C, Schindler D, Taylor AMR, Van de Warrenburg BPC, Dörk T, Willemsen MAAP. van Os NJH, et al. Among authors: van gaalen j, van deuren m, van de warrenburg bpc. J Med Genet. 2019 May;56(5):308-316. doi: 10.1136/jmedgenet-2018-105635. Epub 2019 Feb 28. J Med Genet. 2019. PMID: 30819809
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: van gaalen j. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
The preclinical stage of spinocerebellar ataxias.
Maas RP, van Gaalen J, Klockgether T, van de Warrenburg BP. Maas RP, et al. Among authors: van gaalen j, van de warrenburg bp. Neurology. 2015 Jul 7;85(1):96-103. doi: 10.1212/WNL.0000000000001711. Epub 2015 Jun 10. Neurology. 2015. PMID: 26062625 Review.
58 results